Request PDF on ResearchGate | On Nov 1, , S. Estefanía and others published Displasia septo-óptica. Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland. Displasia septo-óptica o síndrome DeMorsier: Presentación de 1 caso y revisión bibliográfica. Rev Cubana Pediatr [online]. , vol, n.4, pp.
|Published (Last):||13 October 2010|
|PDF File Size:||9.71 Mb|
|ePub File Size:||13.85 Mb|
|Price:||Free* [*Free Regsitration Required]|
The mother was years-old at delivery and denied exposure to alcohol or drugs.
Only one case had no hypothalamic-pituitary axis anomaly case 2. Three patients also presented arachnoid cysts case 1, 2 and 4. Avery’s Diseases of the Newborn 9 ed. Optic nerve hypoplasia with intracranial arachnoid cyst. The abnormality develops during 4 th -6 th weeks of gestation, during early forebrain development.
Heterozygous HESX1 mutations associated with isolated spto pituitary hypoplasia and septo-optic dysplasia.
The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10, live births summary by Webb and Dattani, Morishima A, Aranoff GS.
Midline abnormalities include a great phenotype spectrum 4being agenesis of corpus callosum, absence of the septum pellucidum, cerebellar hypoplasia, aplasia of the fornix and schizencephaly the most common findings in the syndrome 6,8. The electroencephalogram ECG is normal in half of the cases 19, Ectopic posterior pituitary predicts the existence of pituitary hormone deficiency, while hemispheric migration anomalies are predictors of neurodevelopmental deficits 8.
Hydrocephalus or a seizure disorder are more frequently seen in patients with developmental delay 24, Wien Klin Wochenschr ; Webb and Dattani reviewed septooptic dysplasia, noting that there is a wide variation in the severity of the clinical features found and in their association with other diagnoses, which follows no clear pattern.
There were no other congenital abnormalities. Because of low hormone levels, full anterior pituitary hormone replacement was started on the first day.
Dev Med Child Neurol ; A number sign is used with this entry because of evidence that septooptic dysplasia can be caused by mutation in the homeobox gene HESX1 on chromosome 3p In three cases 3, 4 and 5the MRI detected the anomaly on the optic tract, with diffused hypoplasia of the chiasm and optic nerve. The deficiencies also can evolve gradually over time 7,18, He had no evidence of pituitary dysfunction.
D ICD – Usually patients with SOD come to medical attention for signs related to decreased displaisa acuity, such as congenital nystagmus, or small stature.
The images were evaluated by the same method by one investigator. It could be a causative factor or only secondary to a common etiopathogenic process All the patients were forwarded to the endocrinology clinic due to short stature at ages ranging from 3.
Septo-optic dysplasia and median cleft face syndrome in a patient otica isolated growth hormone deficiency and hyperprolactinemia. Case 4 has an empty sella and the other three cases 1, 3 and 5 present hypoplastic anterior pituitary.
Strauss and Robert L. Genetic analysis of the HESX1 gene in 18 patients with sporadic septooptic dysplasia revealed no abnormalities, suggesting that mutations in the HESX1 gene are not a frequent occurrence in sporadic disease. All of the pituitary hormones can be replaced, and this is the treatment for deficiencies. Other displasla characteristic to be remembered on the follow-up of these patients is the evolution of the endocrine deficiencies through time, as occurred with two patients, which demands clinical vigilance and periodic reevaluation of the endocrine function 7,18, We did not observe any prenatal problems optiica usually are associated to SOD or ONH and only one patient had fetal distress, solved by cesarean surgery.
Her mother had low body weight and suffered from urinary infection in the last trimester of pregnancy. How to cite this article. Various types of early intervention or equivalent programs can help a child reach full developmental potential.
Barakat syndrome Tricho—rhino—phalangeal syndrome. Intracranial arachnoid and epidermoid cysts also seem to be associated 6 with, as arachnoid cysts are present in Interestingly, as reported in other reportsour patient was associated with low maternal age and nulliparity.
It was first described by De Morsier in 1. Support Radiopaedia and see fewer ads.
Data concerning previous and presenting symptoms, perinatal history, development and clinical examination were collected from the medical records. Two patients presented hypoglycemia during the infancy associated with short sepfo and one of them also presented constipation and paucity of pubic and axillaries hair case 5 at admission.